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Neurofibromatosis

Neurofibromatosis is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissue. These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.

The tumors are usually noncancerous (benign), but in some cases these tumors become cancerous (malignant) tumors. People with neurofibromatosis often experience only mild symptoms. Effects of neurofibromatosis can range from hearing loss, learning impairment, and heart and blood vessel (cardiovascular) complications to severe disability due to nerve compression by tumors, loss of vision and severe pain.

Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery may help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery, medications to control pain or physical therapy.

Symptoms
Causes
Risk factors
Complications

Three distinct types of neurofibromatosis exist, each with different signs and symptoms.

Neurofibromatosis 1 (NF1)

Flat, light brown spots on the skin. These harmless spots, also called cafe au lait (ka-FAY oh LAY) spots, are common in many people. If you have more than six of them, it's a strong indication of NF1. In NF1, cafe au lait spots are usually present at birth or appear during the first years of life and then stabilize. They aren't serious but can sometimes be a cosmetic concern.

Freckling in the armpits or groin area. Freckling usually appears by age 4 or 5.

Soft bumps on or under the skin (neurofibromas). Neurofibromas are benign tumors that can be located anywhere in the body. Many people develop tumors in the skin or under the skin, but neurofibromas can also grow inside of the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).

Tiny bumps on the iris of your eye (Lisch nodules). Lisch nodules — harmless lesions in your eye — can't easily be seen just by looking at them, and they don't affect your vision. However, your doctor can detect these lesions using a special instrument.

Bone deformities. Abnormalities in the way bones grow and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.

Learning disabilities. Impaired thinking skills (cognition) are common in children with NF1, but are usually mild. Children may have difficulty with language and visual-spatial skills. Children with NF1 often may have a specific learning disability, such as attention-deficit/hyperactivity disorder (ADHD).

Larger than average head size. Children with NF1 tend to have a larger than average head size and higher brain volume, but it's unknown whether this is related to cognitive impairment.

Short stature. Children with NF1 often have a short stature and are below average in height.

Neurofibromatosis 2 (NF2)

Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of vestibular schwannomas (also known as acoustic neuromas) in both ears.

These benign tumors grow on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). Resulting signs and symptoms generally appear in the late teen and early adult years and may include:

Gradual hearing loss

Ringing in the ears

Poor balance

In some cases, NF2 can lead to growth of schwannomas in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Associated signs and symptoms may include:

Facial drop

Numbness and weakness in the arms or legs

Pain

Balance difficulties

In addition, NF2 may result in vision problems due to abnormal growth on the retina (mostly in children) or due to the development of cataracts.

Schwannomatosis

Schwannomatosis is a rare form of neurofibromatosis only recently recognized. It rarely affects people before their 20s or 30s. Schwannomatosis causes painful tumors called schwannomas to develop on cranial, spinal and peripheral nerves, but not on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve).

Because tumors don't grow on this nerve, schwannomatosis doesn't cause hearing loss, making it different from NF2. As with NF2, though, schwannomatosis doesn't cause cognitive impairment. Schwannomatosis mainly causes chronic pain, which can occur anywhere in your body.

When to see a doctor

If you notice signs or symptoms of neurofibromatosis in your child or yourself, call your doctor for an appointment or bring it up at your next visit. The tumors associated with neurofibromatosis are often benign and slow-growing. So although it's important to obtain a timely diagnosis and monitor for complications, the situation isn't an emergency.

Related

You'll probably first discuss any concerns with your child's pediatrician or your primary care doctor. Eventually, your doctor may refer you to other specialists, such as a doctor trained in brain and nervous system conditions (neurologist), depending on your condition and complications.

For your first visit, which may take place during a routine well-child visit, it's a good idea to come prepared to make the best use of the time allotted.

What you can do

Write down a list of concerns, making a note of when you first started having them.

Bring your child's complete medical and family history with you — or your own if you're the one being evaluated — if your doctor doesn't already have it.

Compile a list of questions for your doctor, asking about possible causes, treatments, outcomes and next steps.

Take notes at the appointment to help you remember key points later on.

Bring photographs of other family members (living or deceased) who you think may have had similar physical findings

What to expect from your doctor

Your doctor is likely to conduct a thorough physical examination and ask you to describe your concerns in detail. Your doctor may also conduct some cognitive tests. Depending on your child's age, your doctor may ask about performance in school.

Some signs and symptoms of neurofibromatosis may not appear until a certain age. Because of this, it may take years to diagnose your condition.

To diagnose your condition, your doctor will review your symptoms, medical history and your family history. Depending on the type of neurofibromatosis suspected, your doctor may conduct or order several tests, which may include:

Physical examination and medical history. Your doctor will usually diagnose neurofibromatosis 1 (NF1) based on a physical examination, checking for the characteristics of NF1. Your doctor may use a special lamp to check your skin for light-colored cafe au lait spots.

A physical examination is also important for a neurofibromatosis 2 (NF2) diagnosis. A family history of NF1 or NF2 can help confirm either diagnosis.

Eye exam. Examination by an eye doctor (ophthalmologist) can detect tiny bumps on the iris of your eye (Lisch nodules) and cataracts.

Ear exam. Hearing and balance tests such as audiometry, electronystagmography and brainstem auditory evoked response can help determine the level of hearing and balance function in a person with NF2.

Imaging tests. Imaging tests, such as X-rays, CT scans and MRIs, aren't always required, but they can help identify bone abnormalities, deep tumors in the brain or spinal cord, and very small tumors. An MRI can also help identify optic pathway gliomas in your eye.

Imaging tests may also be particularly helpful in monitoring NF2 and schwannomatosis.

Genetic tests. Genetic tests are available for NF1, NF2 and schwannomatosis, and may be done prenatally. Staff can also provide genetic counseling.

Neurofibromatosis can't be cured, but doctors will monitor you for complications and treat your symptoms. A team of doctors trained in many areas in a neurofibromatosis clinic often may be involved in your care.

Your or your child should begin appropriate treatment as early as possible. Generally, the sooner you or your child is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

Monitoring

If you have a child with neurofibromatosis 1 (NF1), your doctor is likely to recommend yearly age-appropriate checkups to:

Assess your child's skin for new neurofibromas or changes in existing ones

Check your child's blood pressure for signs of high blood pressure

Evaluate your child's growth and development — including height, weight and head circumference — according to growth charts available for children with NF1

Check for signs of early puberty

Evaluate your child for any skeletal changes and abnormalities

Assess your child's learning development and progress in school

Obtain a complete eye examination of your child's eyes

If you notice any changes in signs or symptoms between visits, such as rapid growth of a neurofibroma or onset of pain in a tumor, it's important to contact your doctor promptly to rule out the possibility of a cancerous tumor and to access appropriate treatment at an early stage.

Once a child with NF1 reaches adulthood, the frequency of monitoring can be adjusted to suit the needs of the person with NF1. Adults with mild disease may not need monitoring as often as someone with more-severe complications.

If you have schwannomatosis, you may be given medications to help control your pain.

Surgery and other procedures

Surgery. You may have surgery to remove all or part of tumors that are compressing nearby tissues or damaging organs. Surgery may help relieve symptoms of all forms of neurofibromatosis.

Complete removal of schwannomas in people with schwannomatosis can ease pain substantially.

If you have neurofibromatosis 2 (NF2) and have experienced hearing loss, brainstem compression or tumor growth, your doctor may recommend surgery to remove vestibular schwannomas. Surgery may help improve your hearing. However, surgery carries risks, including hearing loss or damage to the facial nerves.

Discuss the pros and cons of surgery carefully with a doctor or surgeon experienced in treating nerve tumors. For example, tumors often grow back, and surgery may not be recommended again.

Stereotactic radiosurgery. If you have NF2, your doctor may recommend stereotactic radiosurgery to remove vestibular schwannomas. This procedure allows your doctor to deliver radiation very precisely to the location of the tumor, and it can help preserve your hearing to an extent. However, it may create a concern of radiation-induced cancer, especially if the radiation is applied repetitively and at a young age.

Auditory brainstem implants and cochlear implants. If you have NF2 and hearing loss, you may be eligible for auditory brainstem implants or cochlear implants to help improve your hearing.

Cancer treatment

Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. However, early recognition of malignant tumors and early treatment are the most important factors resulting in good outcome.

Caring for a child with a chronic illness such as neurofibromatosis can be a challenge, even if the illness is mild. Greater severity of symptoms can make it even more difficult. There are many medical appointments to keep, treatments to track and instructions to follow. All of this, in addition to general concern about your child's health and anxiety over outcomes, can be overwhelming. It may help to keep in mind that many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.

Perhaps the most important thing you can do for your child's sake and yourself is to find a primary care doctor you trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a neurofibromatosis specialist in your area.

You may also find it helpful to join a support group for parents who care for children with neurofibromatosis, ADHD, special needs or chronic illnesses in general. The Children's Tumor Foundation lists support groups and family events by state on its website. Or, check your local community listings for support groups or ask your doctor for information.

Extended family and friends can be your biggest and closest support network. Don't be afraid to accept their help with daily needs, such as cooking, cleaning, caring for your other children or simply giving you a needed break. Allowing them to share your journey can enrich their lives as well as yours.